A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696785



Internal ID15086751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4149272..4162929hg38UCSC Ensembl
Innerchr17:4052566..4066223hg19UCSC Ensembl
Innerchr17:3999315..4012972hg18UCSC Ensembl
Innerchr17:3999315..4012972hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3813658
hg1913658
hg1813658
hg1713658
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519311
Supporting Variants
Samples
Known GenesCYB5D2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696785
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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